Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias

54 páginas incluye ilustraciones y diagramas

Autores:
Camelo Hernández, Yamid Ferney
Tipo de recurso:
Fecha de publicación:
2015
Institución:
Universidad de la Sabana
Repositorio:
Repositorio Universidad de la Sabana
Idioma:
spa
OAI Identifier:
oai:intellectum.unisabana.edu.co:10818/16098
Acceso en línea:
http://hdl.handle.net/10818/16098
Palabra clave:
Enfermería
Atención al enfermo
Atención médica -- Colombia
Rights
License
Attribution-NonCommercial-NoDerivatives 4.0 International
id REPOUSABA2_db0323f72609bedb8600f24f024106a3
oai_identifier_str oai:intellectum.unisabana.edu.co:10818/16098
network_acronym_str REPOUSABA2
network_name_str Repositorio Universidad de la Sabana
repository_id_str
dc.title.es_CO.fl_str_mv Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
title Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
spellingShingle Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
Enfermería
Atención al enfermo
Atención médica -- Colombia
title_short Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
title_full Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
title_fullStr Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
title_full_unstemmed Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
title_sort Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
dc.creator.fl_str_mv Camelo Hernández, Yamid Ferney
dc.contributor.advisor.none.fl_str_mv Moreno Fergusson, María Elisa
dc.contributor.author.none.fl_str_mv Camelo Hernández, Yamid Ferney
dc.subject.none.fl_str_mv Enfermería
Atención al enfermo
Atención médica -- Colombia
topic Enfermería
Atención al enfermo
Atención médica -- Colombia
description 54 páginas incluye ilustraciones y diagramas
publishDate 2015
dc.date.accessioned.none.fl_str_mv 2015-05-15T21:29:43Z
dc.date.available.none.fl_str_mv 2015-05-15T21:29:43Z
dc.date.created.none.fl_str_mv 2015
dc.date.issued.none.fl_str_mv 2015-05-15
dc.type.es_CO.fl_str_mv Thesis
dc.type.none.fl_str_mv info:eu-repo/semantics/bachelorThesis
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_7a1f
dc.identifier.citation.none.fl_str_mv Calzone KA, Jenkins J, Yates J, Cusack G, Wallen GR, Liewehr DJ, Steinberg SM, McBride C. Survey of nursing integration of genomics into nursing practice. Journal of Nursing Scholarship 2012; 44(4): 428-36.
Jenkins J, Grady PA, Collins FS. Nurses and the genomic revolution. Journal of Nursing Scholarship 2005; 37(2): 98-101.
Loescher L, Merkle C. The Interface of Genomic Technologies and Nursing. Journal of Nursing Scholarship 2005; 37(2): 111-119
Ley 1392/2010 de 2 julio, por la cual se reconocen reconocen las enfermedades huérfanas. (Diario Oficial 47758 de Julio 2 de 2010).
Calzone KA, Jenkins J, Culp S, Bonham VL Jr, Badzek L. National nursing workforce survey of nursing attitudes, knowledge and practice in genomics. Personalized medicine 2013; 10(7): 1-16.
Feetham S, Thomson EJ, Hinshaw AS. Nursing leadership in genomics for health and society. Journal of Nursing Scholarship 2005; 37(2): 102-10.
Calzone KA, Jenkins J, Bakos AD, Cashion AK, Donaldson N, Feero WG, Feetham S, Grady PA, Hinshaw AS, Knebel AR, Robinson N, Ropka ME, Seibert D, Stevens KR, Tully LA, Webb JA. A blueprint for genomic nursing science. Journal of Nursing Scholarship 2013; 45(1):96-104.
Luján J, Moreno L. Biotecnología y sociedad: conflicto, desarrollo y regulación. Instituto de Estudios Sociales Avanzados. Disponible en: http://digital.csic.es/bitstream/10261/1992/1/dt-9305.pdf
Flória-Santos M, Ramos E. Genomic-based nursing care for women with Turner Syndrome: genomic-based nursing care. Revista latinoamericana de Enfermagem 2006; 14(5): 645-650.
Calzone KA, Jenkins J, Culp S, Bonham VL Jr, Badzek L. National nursing workforce survey of nursing attitudes, knowledge and practice in genomics. Personalized medicine 2013; 10(7): 1-16.
Meikle PJ, Hopwood JJ. Lysosomal storage disorders: emerging therapeutic options require early diagnosis. European Journal of Pediatrics. 2003; 162(1):S34-7.
Parkinson-Lawrence EJ, Shandala T, Prodoehl M, Plew R, Borlace GN, Brooks DA. Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology. Physiology (Bethesda). 2010; 25(2):102-15.
Wenger DA, Luzi P, Rafi MA. Lysosomal Storage Diseases: Heterogeneous Group of Disorders. BioImpacts. 2013; 3(4):145-7.
Vellodi A. Lysosomal storage disorders. British Journal of Haematology. 2005; 128(4):413-31.
Qu Y. Lysosomal storage disorders. Journal of pekin university Health sciences2006; 38(1):100-2.
Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochimica et Biophysica Acta.2009; 1793(4):684-96.
Lodwig J, Peers K. Introduction to inherited metabolic diseases. Nursing Times 2013; 109(46): 28
Klein AD, Futerman AH. Lysosomal Storage Disorders: old diseases, present and future challenges. Pediatric endocrinology reviews 2013; 11(1): 59-63.
Wilcox W. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. Journal of Pediatrics 2004;144(5):S3- S14
.Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis, 2006. Chapter 2
Poupetová H, Ledvinová J, Berná L, Dvoráková L, Kozich V, Elleder M.The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. Journal of Inherited metabolic disease. 2010; 33(4):387-96.
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC. Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics. 2004; 12(2):87-92
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999; 20(3):249-54
Sheth J, Patel P, Sheth F, Shah R.Lysosomal storage disorders. Indian Pediatrics. 2004; 41(3):260-5.
Khatiwada B, Pokharel A. Lysosomal Storage Disease. Journal of Nepal Medical Association. 2009; 48(175):242-5.
Schultz ML, Tecedor L, Chang M, Davidson BL. Clarifying lysosomal storage diseases. Trends in Neurosciences. 2011; 34(8): 401-10
Minsalud.gov.co [Internet]. Boletín de Prensa No 052 del 26 de febrero de 2014 [actualizado febrero 2015; citado 25 febrero de 2015]. Disponible en: http://www.minsalud.gov.co/Paginas/-Colombia-avanza-en-laidentificaci%C3%B3n-de-los-pacientes-con-enfermedadeshu%C3%A9rfanas.aspx
Boyes L. What do nurses need to know about genetics? Nursing Times 2013; 109 (49): 24
Gutiérrez L. Avances en el tratamiento de las enfermedades lisosomales en la infancia. Revista de Neurología 2006; 43(1): S137-S144
Lara R, Juárez C, Medina C. Terapia de las enfermedades por depósito lisosomal: actualidad y perspectivas. Revista de investigación clínica 2011; 63(6):651-658.
Freedman R, Sahhar M, Curnow L, Lee J, Peters H. Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families. Journal of genetic counseling 2013; 22(4): 517-32
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce L, Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery C, Teles E, Link B, Lund A, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, Ploeg A, Walker R, Zeman J, Wraith J.Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Orphanet Journal of Rare Diseases 2011; 6(72): 1-18.
Hayes R, Grinzaid K, Duffey E, Elsas II L. The impact of Gaucher disease and its treatment on quality of life. Quality of Life Research 1998; 7(6): 521-34
.Stewart S, Peers K. Rare diseases: what do you need to know? Nursing Times 2013; 109(45): 12-14
Knight A, Senior T. The common problem of rare disease in general practice. Medical Journal of Australia 2006; 185(2): 82
Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet journal of rare diseases 2013; (11): 8-22.
Andria G, Limongelli G. Diagnosis and management of lysosomal storage disorders. Three key words: early, multidisciplinary, and network. Cardiogenetics 2013; 3(1): 1
Resolución 430/2013 de 23 febrero, por el cual se define el listado de enfermedades huérfanas. (Diario Oficial 00271 de febrero 23 de 2013).
Ley 1751/2015 de 16 de febrero,por medio de la cual se regula el derecho fundamental a la salud. (Diario Oficial 49427 de febrero 16 de 2015)
Hennekam RC. Care for patients with ultra-rare disorders. European journal of medical genetics 2011; 54(3):220-4
.Žnidar I, Collin-Histed T, Niemeyer P, Parkkinen J, Lauridsen AG, Zariņa S, Cohen Y, Manuel J. The European Gaucher Alliance: a survey of member patient organisations' activities, healthcare evironments and concerns. Orphanet Journal of Rare Diseases 2014; 9(1): 134-149.
American Nurses Association. Essentials of genetic and genomic nursing: competencies, curricula guidelines, and outcome indicators. 2 ed. Maryland; 2008.
Howington L, Riddlesperger K, Cheek DJ. Essential nursing competencies for genetics and genomics: implications for critical care. Critical care nurse 2011; 31(5): 1-9.
Jenkins J, Calzone KA. Establishing the essential nursing competencies for genetics and genomics. Journal of Nursing Scholarship 2007; 39(1):10-6.
Aiello-Laws LB. Genetics and genomics nursing has arrived! Oncology Nursing Forum 2013; 40(1):20-1.
Calzone KA, Jenkins J, Nicol N, Skirton H, Feero WG, Green ED. Relevance of genomics to healthcare and nursing practice. Journal of Nursing Scholarship 2013; 45(1): 1-2.
Thompson HJ, Brooks MV. Genetics and genomics in nursing: evaluating Essentials implementation. Nurse Education Today 2011; 31(6):623-7.
Prows C, Glass M, Nicol M.J, Skirton H, Williams J. Genomics in Nursing Education. Journal of Nursing Scholarship 2005; 37(3):196-202.
Ley 266/1996 de 25 enero, Por la cual se reglamenta la profesión de enfermería en Colombia. (Diario Oficial No. 42.710, del 5 de febrero de 1996).
Roy C. The Roy Adaptation Model. 3 ed. New Jersey: Pearson; 2009
Buckner E, Hayden S. Synthesis of midle range theory of adapting to chronic conditions: A lifelong process and a common journey. En: Roy C. Middle Range Theories for evidence based practice. New York: Springer Publishing Company, 2014. P. 277 - 307
Stryker VL, Kreps C. Fabry disease. The american journal of Nursing 2001; 101(4): 39-44.
Henderson SL, Packman W, Packman S. Psychosocial aspects of patients with Niemann-Pick disease, Type B. American Journal of medical genetics Part A 2009; 149A (11):2430–2436.
Crosbie T, Packman W, Packman S. Psychological aspects of patients with Fabry disease. Journal of inherited metabolic disease 2009; 32(6):745–753.
Packman W, Crosbie T, Riesner A. Psychological complications of patients with Gaucher disease. Journal of inherited methabolic diseases 2006; 29(1):99-105.
Laney D, Gruskin D, Fernhoff P, Cubells J, Ousley O, Hipp H, Mehta A. Social-adaptive and psychological functioning of patients affected by Fabry disease. Journal of Inherited Metabolic Diseases 2010; 33 (3):S73–S81
Triomphe TJ. Glycogen storage disease: a basic understanding and guide to nursing care. Journal of pediatric Nursing 1997; 12(4):238-49.
Dellve L, Samuelsson L, Tallborn A, Fasth A, Hallberg L. Stress and wellbeing among parents of children with rare diseases: a prospective intervention study. Journal of Advanced Nursing 2006; 53(4): 392–402.
Herdman T. H. NANDA Internacional, diagnósticos enfermeros, definiciones y clasificación 2012-2014 elsevier. 2012
Bulechek G, Butcher H, Dochterman J. Clasificación de intervenciones de enfermería (NIC) quinta edición. Elsevier. 2008
Smith C. Understanding neurofibromatosis type 2. Nursing Times 2013; 109(48):19
Hunt J. Treatment of inherited cardiac conditions. Nursing times 2013; 109(45): 16-18
Ceravolo F, Mascaro I, Sestito S, Pascale E, Lauricella A, Dizione E, Concolino D. Home treatment in paediatric patients with Hunter syndrome: the first Italian experience. Italian Journal of Pediatrics 2013; 39(53):1-3.
Enfermedadesraras-shire [Internet]. Shire [actualizado enero 2015; citado 25 febrero de 2015]. Disponible en: http://enfermedadesraras-shire.com/#
Orpha.net [Internet]. Orphanet [actualizado febrero 2015; citado 25 febrero de 2015].Disponible en: http://www.orpha.net/consor/cgi-bin/index.php.
Acopel. Org [Internet]. Acopel [actualizado enero 2015; citado 25 febrero de 2015]. Disponible en:http://www.acopel.org.co/web/.
Ramaswami U, Stull D, Parini R, Pintos-Morell G, Whybra C, Kalkum G, Rohrbach M, Raluy-Callado M, Beck M, Chen W, Wiklund I. Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).Health and Quality of Life Outcomes 2012; 10(116): 1-9.
Lobiondo-Wood G, Haber J. Nursing Research. Methods and critical appraisal for Evidence based practice. 4 ed. Philadelphia (PA): Mosby Elsevier; 2006.
Polit-Hungler. Investigación científica en ciencias de la salud. 6 Ed. McGraw-Hill; 2000.
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10818/16098
identifier_str_mv Calzone KA, Jenkins J, Yates J, Cusack G, Wallen GR, Liewehr DJ, Steinberg SM, McBride C. Survey of nursing integration of genomics into nursing practice. Journal of Nursing Scholarship 2012; 44(4): 428-36.
Jenkins J, Grady PA, Collins FS. Nurses and the genomic revolution. Journal of Nursing Scholarship 2005; 37(2): 98-101.
Loescher L, Merkle C. The Interface of Genomic Technologies and Nursing. Journal of Nursing Scholarship 2005; 37(2): 111-119
Ley 1392/2010 de 2 julio, por la cual se reconocen reconocen las enfermedades huérfanas. (Diario Oficial 47758 de Julio 2 de 2010).
Calzone KA, Jenkins J, Culp S, Bonham VL Jr, Badzek L. National nursing workforce survey of nursing attitudes, knowledge and practice in genomics. Personalized medicine 2013; 10(7): 1-16.
Feetham S, Thomson EJ, Hinshaw AS. Nursing leadership in genomics for health and society. Journal of Nursing Scholarship 2005; 37(2): 102-10.
Calzone KA, Jenkins J, Bakos AD, Cashion AK, Donaldson N, Feero WG, Feetham S, Grady PA, Hinshaw AS, Knebel AR, Robinson N, Ropka ME, Seibert D, Stevens KR, Tully LA, Webb JA. A blueprint for genomic nursing science. Journal of Nursing Scholarship 2013; 45(1):96-104.
Luján J, Moreno L. Biotecnología y sociedad: conflicto, desarrollo y regulación. Instituto de Estudios Sociales Avanzados. Disponible en: http://digital.csic.es/bitstream/10261/1992/1/dt-9305.pdf
Flória-Santos M, Ramos E. Genomic-based nursing care for women with Turner Syndrome: genomic-based nursing care. Revista latinoamericana de Enfermagem 2006; 14(5): 645-650.
Meikle PJ, Hopwood JJ. Lysosomal storage disorders: emerging therapeutic options require early diagnosis. European Journal of Pediatrics. 2003; 162(1):S34-7.
Parkinson-Lawrence EJ, Shandala T, Prodoehl M, Plew R, Borlace GN, Brooks DA. Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology. Physiology (Bethesda). 2010; 25(2):102-15.
Wenger DA, Luzi P, Rafi MA. Lysosomal Storage Diseases: Heterogeneous Group of Disorders. BioImpacts. 2013; 3(4):145-7.
Vellodi A. Lysosomal storage disorders. British Journal of Haematology. 2005; 128(4):413-31.
Qu Y. Lysosomal storage disorders. Journal of pekin university Health sciences2006; 38(1):100-2.
Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochimica et Biophysica Acta.2009; 1793(4):684-96.
Lodwig J, Peers K. Introduction to inherited metabolic diseases. Nursing Times 2013; 109(46): 28
Klein AD, Futerman AH. Lysosomal Storage Disorders: old diseases, present and future challenges. Pediatric endocrinology reviews 2013; 11(1): 59-63.
Wilcox W. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. Journal of Pediatrics 2004;144(5):S3- S14
.Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis, 2006. Chapter 2
Poupetová H, Ledvinová J, Berná L, Dvoráková L, Kozich V, Elleder M.The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. Journal of Inherited metabolic disease. 2010; 33(4):387-96.
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC. Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics. 2004; 12(2):87-92
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999; 20(3):249-54
Sheth J, Patel P, Sheth F, Shah R.Lysosomal storage disorders. Indian Pediatrics. 2004; 41(3):260-5.
Khatiwada B, Pokharel A. Lysosomal Storage Disease. Journal of Nepal Medical Association. 2009; 48(175):242-5.
Schultz ML, Tecedor L, Chang M, Davidson BL. Clarifying lysosomal storage diseases. Trends in Neurosciences. 2011; 34(8): 401-10
Minsalud.gov.co [Internet]. Boletín de Prensa No 052 del 26 de febrero de 2014 [actualizado febrero 2015; citado 25 febrero de 2015]. Disponible en: http://www.minsalud.gov.co/Paginas/-Colombia-avanza-en-laidentificaci%C3%B3n-de-los-pacientes-con-enfermedadeshu%C3%A9rfanas.aspx
Boyes L. What do nurses need to know about genetics? Nursing Times 2013; 109 (49): 24
Gutiérrez L. Avances en el tratamiento de las enfermedades lisosomales en la infancia. Revista de Neurología 2006; 43(1): S137-S144
Lara R, Juárez C, Medina C. Terapia de las enfermedades por depósito lisosomal: actualidad y perspectivas. Revista de investigación clínica 2011; 63(6):651-658.
Freedman R, Sahhar M, Curnow L, Lee J, Peters H. Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families. Journal of genetic counseling 2013; 22(4): 517-32
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce L, Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery C, Teles E, Link B, Lund A, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, Ploeg A, Walker R, Zeman J, Wraith J.Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Orphanet Journal of Rare Diseases 2011; 6(72): 1-18.
Hayes R, Grinzaid K, Duffey E, Elsas II L. The impact of Gaucher disease and its treatment on quality of life. Quality of Life Research 1998; 7(6): 521-34
.Stewart S, Peers K. Rare diseases: what do you need to know? Nursing Times 2013; 109(45): 12-14
Knight A, Senior T. The common problem of rare disease in general practice. Medical Journal of Australia 2006; 185(2): 82
Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet journal of rare diseases 2013; (11): 8-22.
Andria G, Limongelli G. Diagnosis and management of lysosomal storage disorders. Three key words: early, multidisciplinary, and network. Cardiogenetics 2013; 3(1): 1
Resolución 430/2013 de 23 febrero, por el cual se define el listado de enfermedades huérfanas. (Diario Oficial 00271 de febrero 23 de 2013).
Ley 1751/2015 de 16 de febrero,por medio de la cual se regula el derecho fundamental a la salud. (Diario Oficial 49427 de febrero 16 de 2015)
Hennekam RC. Care for patients with ultra-rare disorders. European journal of medical genetics 2011; 54(3):220-4
.Žnidar I, Collin-Histed T, Niemeyer P, Parkkinen J, Lauridsen AG, Zariņa S, Cohen Y, Manuel J. The European Gaucher Alliance: a survey of member patient organisations' activities, healthcare evironments and concerns. Orphanet Journal of Rare Diseases 2014; 9(1): 134-149.
American Nurses Association. Essentials of genetic and genomic nursing: competencies, curricula guidelines, and outcome indicators. 2 ed. Maryland; 2008.
Howington L, Riddlesperger K, Cheek DJ. Essential nursing competencies for genetics and genomics: implications for critical care. Critical care nurse 2011; 31(5): 1-9.
Jenkins J, Calzone KA. Establishing the essential nursing competencies for genetics and genomics. Journal of Nursing Scholarship 2007; 39(1):10-6.
Aiello-Laws LB. Genetics and genomics nursing has arrived! Oncology Nursing Forum 2013; 40(1):20-1.
Calzone KA, Jenkins J, Nicol N, Skirton H, Feero WG, Green ED. Relevance of genomics to healthcare and nursing practice. Journal of Nursing Scholarship 2013; 45(1): 1-2.
Thompson HJ, Brooks MV. Genetics and genomics in nursing: evaluating Essentials implementation. Nurse Education Today 2011; 31(6):623-7.
Prows C, Glass M, Nicol M.J, Skirton H, Williams J. Genomics in Nursing Education. Journal of Nursing Scholarship 2005; 37(3):196-202.
Ley 266/1996 de 25 enero, Por la cual se reglamenta la profesión de enfermería en Colombia. (Diario Oficial No. 42.710, del 5 de febrero de 1996).
Roy C. The Roy Adaptation Model. 3 ed. New Jersey: Pearson; 2009
Buckner E, Hayden S. Synthesis of midle range theory of adapting to chronic conditions: A lifelong process and a common journey. En: Roy C. Middle Range Theories for evidence based practice. New York: Springer Publishing Company, 2014. P. 277 - 307
Stryker VL, Kreps C. Fabry disease. The american journal of Nursing 2001; 101(4): 39-44.
Henderson SL, Packman W, Packman S. Psychosocial aspects of patients with Niemann-Pick disease, Type B. American Journal of medical genetics Part A 2009; 149A (11):2430–2436.
Crosbie T, Packman W, Packman S. Psychological aspects of patients with Fabry disease. Journal of inherited metabolic disease 2009; 32(6):745–753.
Packman W, Crosbie T, Riesner A. Psychological complications of patients with Gaucher disease. Journal of inherited methabolic diseases 2006; 29(1):99-105.
Laney D, Gruskin D, Fernhoff P, Cubells J, Ousley O, Hipp H, Mehta A. Social-adaptive and psychological functioning of patients affected by Fabry disease. Journal of Inherited Metabolic Diseases 2010; 33 (3):S73–S81
Triomphe TJ. Glycogen storage disease: a basic understanding and guide to nursing care. Journal of pediatric Nursing 1997; 12(4):238-49.
Dellve L, Samuelsson L, Tallborn A, Fasth A, Hallberg L. Stress and wellbeing among parents of children with rare diseases: a prospective intervention study. Journal of Advanced Nursing 2006; 53(4): 392–402.
Herdman T. H. NANDA Internacional, diagnósticos enfermeros, definiciones y clasificación 2012-2014 elsevier. 2012
Bulechek G, Butcher H, Dochterman J. Clasificación de intervenciones de enfermería (NIC) quinta edición. Elsevier. 2008
Smith C. Understanding neurofibromatosis type 2. Nursing Times 2013; 109(48):19
Hunt J. Treatment of inherited cardiac conditions. Nursing times 2013; 109(45): 16-18
Ceravolo F, Mascaro I, Sestito S, Pascale E, Lauricella A, Dizione E, Concolino D. Home treatment in paediatric patients with Hunter syndrome: the first Italian experience. Italian Journal of Pediatrics 2013; 39(53):1-3.
Enfermedadesraras-shire [Internet]. Shire [actualizado enero 2015; citado 25 febrero de 2015]. Disponible en: http://enfermedadesraras-shire.com/#
Orpha.net [Internet]. Orphanet [actualizado febrero 2015; citado 25 febrero de 2015].Disponible en: http://www.orpha.net/consor/cgi-bin/index.php.
Acopel. Org [Internet]. Acopel [actualizado enero 2015; citado 25 febrero de 2015]. Disponible en:http://www.acopel.org.co/web/.
Ramaswami U, Stull D, Parini R, Pintos-Morell G, Whybra C, Kalkum G, Rohrbach M, Raluy-Callado M, Beck M, Chen W, Wiklund I. Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).Health and Quality of Life Outcomes 2012; 10(116): 1-9.
Lobiondo-Wood G, Haber J. Nursing Research. Methods and critical appraisal for Evidence based practice. 4 ed. Philadelphia (PA): Mosby Elsevier; 2006.
Polit-Hungler. Investigación científica en ciencias de la salud. 6 Ed. McGraw-Hill; 2000.
url http://hdl.handle.net/10818/16098
dc.language.iso.fl_str_mv spa
language spa
dc.rights.*.fl_str_mv Attribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
rights_invalid_str_mv Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
http://purl.org/coar/access_right/c_abf2
dc.publisher.none.fl_str_mv Universidad de la Sabana
dc.publisher.program.none.fl_str_mv Enfermería
dc.publisher.department.none.fl_str_mv Facultad de Enfermería y Rehabilitación
publisher.none.fl_str_mv Universidad de la Sabana
dc.source.none.fl_str_mv Intellectum Repositorio Universidad de la Sabana
Universidad de la Sabana
institution Universidad de la Sabana
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spelling Moreno Fergusson, María ElisaCamelo Hernández, Yamid FerneyEnfermero2015-05-15T21:29:43Z2015-05-15T21:29:43Z20152015-05-15Calzone KA, Jenkins J, Yates J, Cusack G, Wallen GR, Liewehr DJ, Steinberg SM, McBride C. Survey of nursing integration of genomics into nursing practice. Journal of Nursing Scholarship 2012; 44(4): 428-36.Jenkins J, Grady PA, Collins FS. Nurses and the genomic revolution. Journal of Nursing Scholarship 2005; 37(2): 98-101.Loescher L, Merkle C. The Interface of Genomic Technologies and Nursing. Journal of Nursing Scholarship 2005; 37(2): 111-119Ley 1392/2010 de 2 julio, por la cual se reconocen reconocen las enfermedades huérfanas. (Diario Oficial 47758 de Julio 2 de 2010).Calzone KA, Jenkins J, Culp S, Bonham VL Jr, Badzek L. National nursing workforce survey of nursing attitudes, knowledge and practice in genomics. Personalized medicine 2013; 10(7): 1-16.Feetham S, Thomson EJ, Hinshaw AS. Nursing leadership in genomics for health and society. 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Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. Journal of Pediatrics 2004;144(5):S3- S14.Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis, 2006. Chapter 2Poupetová H, Ledvinová J, Berná L, Dvoráková L, Kozich V, Elleder M.The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. Journal of Inherited metabolic disease. 2010; 33(4):387-96.Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC. Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics. 2004; 12(2):87-92Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. 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Journal of Advanced Nursing 2006; 53(4): 392–402.Herdman T. H. NANDA Internacional, diagnósticos enfermeros, definiciones y clasificación 2012-2014 elsevier. 2012Bulechek G, Butcher H, Dochterman J. Clasificación de intervenciones de enfermería (NIC) quinta edición. Elsevier. 2008Smith C. Understanding neurofibromatosis type 2. Nursing Times 2013; 109(48):19Hunt J. Treatment of inherited cardiac conditions. Nursing times 2013; 109(45): 16-18Ceravolo F, Mascaro I, Sestito S, Pascale E, Lauricella A, Dizione E, Concolino D. Home treatment in paediatric patients with Hunter syndrome: the first Italian experience. Italian Journal of Pediatrics 2013; 39(53):1-3.Enfermedadesraras-shire [Internet]. Shire [actualizado enero 2015; citado 25 febrero de 2015]. Disponible en: http://enfermedadesraras-shire.com/#Orpha.net [Internet]. Orphanet [actualizado febrero 2015; citado 25 febrero de 2015].Disponible en: http://www.orpha.net/consor/cgi-bin/index.php.Acopel. Org [Internet]. Acopel [actualizado enero 2015; citado 25 febrero de 2015]. Disponible en:http://www.acopel.org.co/web/.Ramaswami U, Stull D, Parini R, Pintos-Morell G, Whybra C, Kalkum G, Rohrbach M, Raluy-Callado M, Beck M, Chen W, Wiklund I. Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).Health and Quality of Life Outcomes 2012; 10(116): 1-9.Lobiondo-Wood G, Haber J. Nursing Research. Methods and critical appraisal for Evidence based practice. 4 ed. Philadelphia (PA): Mosby Elsevier; 2006.Polit-Hungler. Investigación científica en ciencias de la salud. 6 Ed. McGraw-Hill; 2000.http://hdl.handle.net/10818/1609854 páginas incluye ilustraciones y diagramasA partir del descubrimiento del genoma humano en el año 2003, que tuvo como propósito descifrar el código genético de los cromosomas, la atención de la salud está cambiando en aspectos relacionados con la prevención de enfermedades, el diagnóstico y el tratamiento. [1, 2, 3] El estudio del genoma humano ha ayudado a identificar el origen de muchas enfermedades, entre las cuales se encuentran las enfermedades raras o huérfanas, las cuales tienen una prevalencia menor de 1 por cada 5000 personas. Estas enfermedades son de especial interés para el gobierno nacional, por la condición de ser crónicas debilitantes, graves, amenazan la vida de las personas afectadas, y tienen un elevado costo de atención. [4] Dadas estas particularidades, representan un reto para la atención en salud evidenciándose la necesidad de indagar más sobre ellas para brindar atención integral a los pacientes y sus familias con el fin de mejorar su calidad de vida Nota: Para consultar la carta de autorización de publicación de este documento por favor copie y pegue el siguiente enlace en su navegador de internet: http://intellectum.unisabana.edu.co/handle/10818/16099Universidad de la SabanaEnfermeríaFacultad de Enfermería y RehabilitaciónAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2Intellectum Repositorio Universidad de la SabanaUniversidad de la SabanaEnfermeríaAtención al enfermoAtención médica -- ColombiaCuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familiasThesisinfo:eu-repo/semantics/bachelorThesishttp://purl.org/coar/resource_type/c_7a1fspaTEXTYamid Ferney Camelo Hernández (tesis).pdf.txtYamid Ferney Camelo Hernández (tesis).pdf.txtExtracted Texttext/plain54https://intellectum.unisabana.edu.co/bitstream/10818/16098/4/Yamid%20Ferney%20Camelo%20Hern%c3%a1ndez%20%20%28tesis%29.pdf.txt30f9144fe1ef3882041eb8cb4e7cd46bMD54CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-81223https://intellectum.unisabana.edu.co/bitstream/10818/16098/2/license_rdf7c9ab7f006165862d8ce9ac5eac01552MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-8498https://intellectum.unisabana.edu.co/bitstream/10818/16098/3/license.txtf52a2cfd4df262e08e9b300d62c85cabMD53ORIGINALYamid Ferney Camelo Hernández (tesis).pdfYamid Ferney Camelo Hernández (tesis).pdfVer documento en PDFapplication/pdf791459https://intellectum.unisabana.edu.co/bitstream/10818/16098/1/Yamid%20Ferney%20Camelo%20Hern%c3%a1ndez%20%20%28tesis%29.pdfe43e72639b8854018acd8dbfd3ffc3f3MD5110818/16098oai:intellectum.unisabana.edu.co:10818/160982019-02-22 13:33:00.7Intellectum Universidad de la Sabanacontactointellectum@unisabana.edu.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